Search Results - "Littlejohn, Mathew"
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Modulation of the maternal immune system by the pre-implantation embryo
Published in BMC genomics (13-08-2010)“…A large proportion of pregnancy losses occur during the pre-implantation period, when the developing embryo is elongating rapidly and signalling its presence…”
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Genetic variation in histone modifications and gene expression identifies regulatory variants in the mammary gland of cattle
Published in BMC genomics (08-12-2022)“…Causal variants for complex traits, such as eQTL are often found in non-coding regions of the genome, where they are hypothesised to influence phenotypes by…”
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3
A frameshift-deletion mutation in Reelin causes cerebellar hypoplasia in White Swiss Shepherd dogs
Published in Animal genetics (01-10-2023)“…Cerebellar hypoplasia is a heterogeneous neurological condition in which the cerebellum is smaller than usual or not completely developed. The condition can…”
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Variants modulating the expression of a chromosome domain encompassing PLAG1 influence bovine stature
Published in Nature genetics (01-05-2011)“…Michel Georges and colleagues report fine mapping and functional characterization of a quantitative trait locus with a large effect on bovine stature. They…”
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Functionally reciprocal mutations of the prolactin signalling pathway define hairy and slick cattle
Published in Nature communications (18-12-2014)“…Lactation, hair development and homeothermy are characteristic evolutionary features that define mammals from other vertebrate species. Here we describe the…”
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Sequence-based Association Analysis Reveals an MGST1 eQTL with Pleiotropic Effects on Bovine Milk Composition
Published in Scientific reports (05-05-2016)“…The mammary gland is a prolific lipogenic organ, synthesising copious amounts of triglycerides for secretion into milk. The fat content of milk varies widely…”
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A new mechanism for a familiar mutation - bovine DGAT1 K232A modulates gene expression through multi-junction exon splice enhancement
Published in BMC genomics (26-08-2020)“…The DGAT1 gene encodes an enzyme responsible for catalysing the terminal reaction in mammary triglyceride synthesis, and underpins a well-known pleiotropic…”
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Allele-specific binding variants causing ChIP-seq peak height of histone modification are not enriched in expression QTL annotations
Published in Genetics selection evolution (Paris) (27-06-2024)“…Genome sequence variants affecting complex traits (quantitative trait loci, QTL) are enriched in functional regions of the genome, such as those marked by…”
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Comparison of the genetic characteristics of directly measured and Fourier-transform mid-infrared-predicted bovine milk fatty acids and proteins
Published in Journal of dairy science (01-12-2022)“…Fourier-transform mid-infrared (FT-MIR) spectroscopy is a high-throughput and inexpensive methodology used to evaluate concentrations of fat and protein in…”
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Non-additive association analysis using proxy phenotypes identifies novel cattle syndromes
Published in Nature genetics (01-07-2021)“…Mammalian species carry ~100 loss-of-function variants per individual 1 , 2 , where ~1–5 of these impact essential genes and cause embryonic lethality or…”
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Pathology of the peripheral neuropathy Charcot-Marie-Tooth disease type 4H in Holstein Friesian cattle with a splice site mutation in FGD4
Published in Veterinary pathology (01-05-2022)“…Charcot-Marie-Tooth disease (CMT) is a hereditary sensory and motor peripheral neuropathy that is one of the most common inherited neurological diseases of…”
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DNA and RNA-sequence based GWAS highlights membrane-transport genes as key modulators of milk lactose content
Published in BMC genomics (15-12-2017)“…Lactose provides an easily-digested energy source for neonates, and is the primary carbohydrate in milk in most species. Bovine lactose is also a key component…”
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NGS-based reverse genetic screen for common embryonic lethal mutations compromising fertility in livestock
Published in Genome research (01-10-2016)“…We herein report the result of a large-scale, next generation sequencing (NGS)-based screen for embryonic lethal (EL) mutations in Belgian beef and New Zealand…”
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The genomes of precision edited cloned calves show no evidence for off-target events or increased de novo mutagenesis
Published in BMC genomics (17-06-2021)“…Animal health and welfare are at the forefront of public concern and the agricultural sector is responding by prioritising the selection of welfare-relevant…”
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Functional confirmation of PLAG1 as the candidate causative gene underlying major pleiotropic effects on body weight and milk characteristics
Published in Scientific reports (21-03-2017)“…A major pleiotropic quantitative trait locus (QTL) located at ~25 Mbp on bovine chromosome 14 affects a myriad of growth and developmental traits in Bos taurus…”
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Sequence-based genome-wide association study of individual milk mid-infrared wavenumbers in mixed-breed dairy cattle
Published in Genetics selection evolution (Paris) (20-07-2021)“…Fourier-transform mid-infrared (FT-MIR) spectroscopy provides a high-throughput and inexpensive method for predicting milk composition and other novel traits…”
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A common regulatory haplotype doubles lactoferrin concentration in milk
Published in Genetics selection evolution (Paris) (28-03-2024)“…Bovine lactoferrin (Lf) is an iron absorbing whey protein with antibacterial, antiviral, and antifungal activity. Lactoferrin is economically valuable and has…”
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Genome-wide association analysis reveals QTL and candidate mutations involved in white spotting in cattle
Published in Genetics selection evolution (Paris) (08-11-2019)“…White spotting of the coat is a characteristic trait of various domestic species including cattle and other mammals. It is a hallmark of Holstein-Friesian…”
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Expression variants of the lipogenic AGPAT6 gene affect diverse milk composition phenotypes in Bos taurus
Published in PloS one (21-01-2014)“…Milk is composed of a complex mixture of lipids, proteins, carbohydrates and various vitamins and minerals as a source of nutrition for young mammals. The…”
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Screening for phenotypic outliers identifies an unusually low concentration of a β-lactoglobulin B protein isoform in bovine milk caused by a synonymous SNP
Published in Genetics selection evolution (Paris) (16-03-2022)“…Milk samples from 10,641 dairy cattle were screened by a mass spectrometry method for extreme concentrations of the A or B isoforms of the whey protein,…”
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